真性红细胞增多症、原发性血小板增多症、原发性骨髓纤维化患者骨髓病理特点及JAK2突变  

Study on the histopathological features and the mutation of JAK2 gene in patients with polycythemia vera,essential thrombocy themia,or idiopathic my elofibrosis

作　　者：徐祖琼[1] 孙雪梅[2] 欧阳建[1] 谢品浩[1] 杨建刚[1] 杨永公[1] 许景艳[1] 袁翠英[1] 张启国[1] 陈兵[1] 周荣富[1] 张谦[1] 周祀侨[3] 张丽华[3] 

机构地区：[1]南京大学医学院附属鼓楼医院血液科,210008 [2]江苏省中医院血液科,南京市210029 [3]南京大学医学院附属鼓楼医院病理科,210008

出　　处：《实用医学杂志》2008年第20期3481-3483,共3页The Journal of Practical Medicine

基　　金：江苏省科技厅社会发展基金资助项目(编号:BS200306);南京市医学科技发展基金资助项目(编号:ZKX06013)

摘　　要：目的:探讨真性红细胞增多症(PV)、原发性血小板增多症(ET)、原发性骨髓纤维化(IMF)患者的骨髓病理特点并且检测JAK2V617F突变的发生率,分析骨髓中纤维增生程度以及JAK2V617F突变对PV、ET患者白细胞数的影响。方法:69例初诊患者的骨髓切片经HGF染色以及Gomori染色后进行形态学研究,并利用real-timePCR法测38例患者的骨髓或者外周血的JAK2V617F突变;分析骨髓切片中纤维组织增生程度以及JAK2突变对患者白细胞数的影响。结果:15例PV和15例ET患者的骨髓切片中可以观察到不同程度的纤维组织增生,所有PV、ET、IMF患者骨髓中可见到巨核细胞增多、巨核细胞多形性改变以及巨核细胞定位于骨小梁旁;12例PV、4例ET、4例IMF中检测到JAK2V617F突变;有突变和无突变患者发病时白细胞数均值分别为20.4×109/L和11.4×109/L,不同纤维增生程度的PV、ET患者的白细胞数均值差异无显著性(P=0.367)。结论:69例PV、ET、IMF患者骨髓切片中均有巨核细胞的形态以及定位变化,PV、ET、IMF患者中JAK2V617F突变的发生率分别为80%、27%、50%;有突变患者的白细胞数均值高于无突变患者,初诊的PV、ET患者骨髓中不同纤维增生程度患者的白细胞均值无明显差异。Objective To investigate the histopathological features and detect the mutation of JAK2V617F in patients with polycythemia vera （PV）, essential thrombocythemia （ET）, or idiopathic my elofibrosis （IMF）, and analyze the effects of myelofibrosis and the JAK2V617F mutation on the number of leucocytes in patients with PV and ET. Methods The morphological features of 69 patients who had been dignosed in the first time were studied by HGF and Gomori staining. The mutation of JAK2V617F was detected in 38 blood or marrow samples from patients with PV,ET or IMF by using real-time PCR technique. Then the effects of myelofibrosis and the JAK2V617F mutation on the number of leucocytes were analyzed. Results Different stages of fibroplasia were observed in marrow sections of 15 PV and 15 ET patiens, and the cytosis, pleomorphism and location closing to the bone trabecula of megakaryocytes were observed in all patients with PV, ET, or IMF. The JAK2V617F mutation was detected in 12 patients PV, 4 patients ET and 4 patients IMF. The means of leucocytes in patients with and without JAK2V617F mutation were 20.4 × 10^9/L and 11.4 × 10^9/L, respectively,the P value was 0.006. There was no significant difference in the number of leucocytes among PV and ET patients with different stages of fiber hyperplasy, and the P value was 0.367. Condusions The variations in location and morpbous of megakaryocytes are observed in all PV,ET and IMF patients. The incidence rates of JAK2V617F in PV,ET and IMF patients are 80%, 27% and 50%, respectively. The mean of leucocytes in patients with JAK2V617F mutation was higher than patiens without JAK2V617F mutation, however, no difference in the mean of leucocytes is found in PV and ET patients who are diagnosed in the first time with different stages of fiber hyperplasy in bone marrow.

关 键 词：骨髓疾病 HGF染色 Gomori染色 JAK2突变 

分 类 号：R55[医药卫生—血液循环系统疾病]